Linked Data
dbSNP Id:
rs1242016580
gnomAD v2:
13-103498109-T-C
gnomAD v3:
13-102845759-T-C
gnomAD v4:
13-102845759-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102845759T>C , CM000675.2:g.102845759T>C | GRCh38 |
| NC_000013.10:g.103498109T>C , CM000675.1:g.103498109T>C | GRCh37 |
| NC_000013.9:g.102296110T>C | NCBI36 |
| NG_007146.1:g.4936T>C , LRG_464:g.4936T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638434.1:c.363-7998T>C (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3359T>C (BIVM-ERCC5) | ||
| ENST00000639132.1:c.763+5956T>C (BIVM-ERCC5) | ENSP00000492684.1:n.763+5956T>C | |
| ENST00000639435.1:c.1450+5956T>C (BIVM-ERCC5) | ENSP00000491742.1:n.1450+5956T>C | |
| ENST00000355739.8:c.-508T>C (ERCC5) | ENSP00000347978.4:n.-508T>C | |
| ENST00000602836.1:c.1364+5956T>C (BIVM-ERCC5) | ||
| NM_001204425.1:c.1450+5956T>C (BIVM-ERCC5) | NP_001191354.1:n.1450+5956T>C | |
| NM_001204425.2:c.1450+5956T>C (BIVM-ERCC5) | NP_001191354.2:n.1450+5956T>C |